Canonical Allele Identifier: CA366088439

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443588C>G (hg19) ; chr6:g.152122453C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122453C>G , CM000668.2:g.152122453C>G	GRCh38
NC_000006.11:g.152443588C>G , CM000668.1:g.152443588C>G	GRCh37
NC_000006.10:g.152485281C>G	NCBI36
NG_012855.1:g.519947G>C
NG_008493.2:g.470763C>G
NG_012855.2:g.519947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2911G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gly971Arg
ENST00000367255.10:c.26377G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Gly8793Arg
ENST00000423061.6:c.26233G>C (SYNE1)	ENSP00000396024.1:p.Gly8745Arg
ENST00000672154.1:c.1720G>C (SYNE1)
ENST00000672169.1:c.2095G>C (SYNE1)
ENST00000673173.1:c.1962G>C (SYNE1)
ENST00000673451.1:c.2227G>C (SYNE1)	ENSP00000500189.1:n.2227G>C
ENST00000341594.9:c.25162G>C (SYNE1)	ENSP00000341887.6:p.Gly8388Arg
ENST00000347037.9:n.3125G>C (SYNE1)
ENST00000354674.4:c.2911G>C (SYNE1)	ENSP00000346701.4:p.Gly971Arg
ENST00000367251.7:c.5153G>C (SYNE1)	ENSP00000356220.3:n.5153G>C
ENST00000367255.9:c.26377G>C (SYNE1)	ENSP00000356224.5:p.Gly8793Arg
ENST00000367256.9:n.10069G>C (SYNE1)
ENST00000367257.8:c.4256G>C (SYNE1)	ENSP00000356226.4:n.4256G>C
ENST00000409694.6:n.9961G>C (SYNE1)
ENST00000423061.5:c.26233G>C (SYNE1)	ENSP00000396024.1:p.Gly8745Arg
ENST00000427531.6:c.851-2813C>G (ESR1)	ENSP00000394721.2:n.851-2813C>G
ENST00000460912.6:n.2991G>C (SYNE1)
ENST00000478916.5:n.7014G>C (SYNE1)
ENST00000539504.5:c.2842G>C (SYNE1)	ENSP00000441052.1:p.Gly948Arg
NM_033071.3:c.26233G>C (SYNE1)	NP_149062.1:p.Gly8745Arg
NM_182961.3:c.26377G>C (SYNE1)	NP_892006.3:p.Gly8793Arg
XM_006715407.1:c.26524G>C (SYNE1)	XP_006715470.1:p.Gly8842Arg
XM_006715408.1:c.26512G>C (SYNE1)	XP_006715471.1:p.Gly8838Arg
XM_006715409.1:c.26503G>C (SYNE1)	XP_006715472.1:p.Gly8835Arg
XM_006715410.1:c.26482G>C (SYNE1)	XP_006715473.1:p.Gly8828Arg
XM_006715411.1:c.26473G>C (SYNE1)	XP_006715474.1:p.Gly8825Arg
XM_006715412.1:c.26467G>C (SYNE1)	XP_006715475.1:p.Gly8823Arg
XM_006715413.1:c.26455G>C (SYNE1)	XP_006715476.1:p.Gly8819Arg
XM_006715414.1:c.26452G>C (SYNE1)	XP_006715477.1:p.Gly8818Arg
XM_006715415.1:c.26413G>C (SYNE1)	XP_006715478.1:p.Gly8805Arg
XM_006715416.1:c.26398G>C (SYNE1)	XP_006715479.1:p.Gly8800Arg
XM_006715417.1:c.26383G>C (SYNE1)	XP_006715480.1:p.Gly8795Arg
XM_006715420.1:c.26371G>C (SYNE1)	XP_006715483.1:p.Gly8791Arg
XM_006715421.1:c.26368G>C (SYNE1)	XP_006715484.1:p.Gly8790Arg
XM_006715422.1:c.26365G>C (SYNE1)	XP_006715485.1:p.Gly8789Arg
XM_006715423.1:c.*188G>C (SYNE1)	XP_006715486.1:n.*188G>C
XM_006715424.1:c.*188G>C (SYNE1)	XP_006715487.1:n.*188G>C
XM_006715425.1:c.*188G>C (SYNE1)	XP_006715488.1:n.*188G>C
XM_011535641.1:c.26521G>C (SYNE1)	XP_011533943.1:p.Gly8841Arg
XM_011535642.1:c.26509G>C (SYNE1)	XP_011533944.1:p.Gly8837Arg
XM_011535643.1:c.26359G>C (SYNE1)	XP_011533945.1:p.Gly8787Arg
XM_011535644.1:c.24799G>C (SYNE1)	XP_011533946.1:p.Gly8267Arg
XM_011535645.1:c.24292G>C (SYNE1)	XP_011533947.1:p.Gly8098Arg
XM_011535647.1:c.19759G>C (SYNE1)	XP_011533949.1:p.Gly6587Arg
NM_001328100.1:c.851-2813C>G (ESR1)	NP_001315029.1:n.851-2813C>G
NM_001347701.1:c.*188G>C (SYNE1)	NP_001334630.1:n.*188G>C
NM_001347702.1:c.2911G>C (SYNE1)	NP_001334631.1:p.Gly971Arg
XM_006715408.2:c.26512G>C (SYNE1)	XP_006715471.1:p.Gly8838Arg
XM_006715410.2:c.26482G>C (SYNE1)	XP_006715473.1:p.Gly8828Arg
XM_006715412.2:c.26467G>C (SYNE1)	XP_006715475.1:p.Gly8823Arg
XM_006715413.2:c.26455G>C (SYNE1)	XP_006715476.1:p.Gly8819Arg
XM_006715415.2:c.26413G>C (SYNE1)	XP_006715478.1:p.Gly8805Arg
XM_006715416.2:c.26398G>C (SYNE1)	XP_006715479.1:p.Gly8800Arg
XM_006715417.2:c.26383G>C (SYNE1)	XP_006715480.1:p.Gly8795Arg
XM_006715420.2:c.26371G>C (SYNE1)	XP_006715483.1:p.Gly8791Arg
XM_006715421.2:c.26368G>C (SYNE1)	XP_006715484.1:p.Gly8790Arg
XM_006715423.2:c.*188G>C (SYNE1)	XP_006715486.1:n.*188G>C
XM_006715424.2:c.*188G>C (SYNE1)	XP_006715487.1:n.*188G>C
XM_006715425.2:c.*188G>C (SYNE1)	XP_006715488.1:n.*188G>C
XM_011535641.2:c.26521G>C (SYNE1)	XP_011533943.1:p.Gly8841Arg
XM_011535642.2:c.26509G>C (SYNE1)	XP_011533944.1:p.Gly8837Arg
XM_011535645.2:c.24292G>C (SYNE1)	XP_011533947.1:p.Gly8098Arg
XM_017010608.1:c.26524G>C (SYNE1)	XP_016866097.1:p.Gly8842Arg
XM_017010609.1:c.26524G>C (SYNE1)	XP_016866098.1:p.Gly8842Arg
XM_017010610.1:c.26503G>C (SYNE1)	XP_016866099.1:p.Gly8835Arg
XM_017010611.2:c.26497G>C (SYNE1)	XP_016866100.1:p.Gly8833Arg
XM_017010612.1:c.26446G>C (SYNE1)	XP_016866101.1:p.Gly8816Arg
XM_017010613.1:c.26410G>C (SYNE1)	XP_016866102.1:p.Gly8804Arg
XM_017010614.1:c.26368G>C (SYNE1)	XP_016866103.1:p.Gly8790Arg
XM_017010615.1:c.26257G>C (SYNE1)	XP_016866104.1:p.Gly8753Arg
XM_017010616.1:c.*188G>C (SYNE1)	XP_016866105.1:n.*188G>C
XM_017010617.1:c.*188G>C (SYNE1)	XP_016866106.1:n.*188G>C
XM_017010618.1:c.*188G>C (SYNE1)	XP_016866107.1:n.*188G>C
XM_017010619.1:c.24799G>C (SYNE1)	XP_016866108.1:p.Gly8267Arg
NM_182961.4:c.26377G>C (SYNE1) MANE Select	NP_892006.3:p.Gly8793Arg
NM_001328100.2:c.851-2813C>G (ESR1)	NP_001315029.1:n.851-2813C>G
NM_001347701.2:c.*188G>C (SYNE1)	NP_001334630.1:n.*188G>C
NM_001347702.2:c.2911G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gly971Arg
NM_033071.5:c.26233G>C (SYNE1)	NP_149062.2:p.Gly8745Arg